Group:MUZIC:XIN

Xin actin-binding repeat-containing protein 1 (Alternative name: Cardiomyopathy-associated protein 1) is coded by the gene (Synonyms:CMYA1, XIN) and has an actin-binding domain (ABD). It crosslinks actin filaments and participates in anchoring of membrane proteins. Intraexogic splicing leads to a least three different isoforms.

Sequence AnnotationSequence Annotation

Interactions with other proteins/Function FunctionInteractions with other proteins/Function Function

Xin and Mena/VASP colocalize with filamin c in [intercalated discs][1](ICD, structure at the end of the myocytes that transduce force from the myofibrils via the cell membranes to the extracelluar matrix and neighboring cells) in the adult heart ^[1].

Xin directly binds the EVH1 domain proteins Mena and VASP <ref name="pmid16631741">. Xin binds the unique insertion containing Ig domain 20. Xin directly binds F-actin <ref name="pmid15454575">.

hhhh [ aaaa http://en.wikipedia.org/wiki/Intercalated_disc]

Clinical significanceClinical significance

1wlh, 1qfh – FLN rod domain – Dictyostelium discoideum

ReferencesReferences

↑ Clark AR, Sawyer GM, Robertson SP, Sutherland-Smith AJ. Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders. Hum Mol Genet. 2009 Dec 15;18(24):4791-800. Epub 2009 Sep 22. PMID:19773341 doi:10.1093/hmg/ddp442

[1] Clark AR, Sawyer GM, Robertson SP, Sutherland-Smith AJ. Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders. Hum Mol Genet. 2009 Dec 15;18(24):4791-800. Epub 2009 Sep 22. PMID:19773341 doi:10.1093/hmg/ddp442

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